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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PFM2
Location 5q35.2
Name parietal foramina permagna 2
Other name(s) foramina parietalia
Corresponding gene MSX2
Other symbol(s) FPP
Main clinical features
  • skull vault defect, with enlarged parietal foramina and cranium bifidum
  • with or without cleidocranial dysplasia
  • maybe associated with headaches, scalp defects and structural or vascular malformations of the brain
    • Genetic determination autosomal dominant
    Related entries ALX4
    Function/system disorder osteo-articular
    Type malformation
    Gene product
    Name protein with helix turn helix, DNA binding domain (haploinsufficiency), homeobox MSX2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function disruption of protein stability
    deletion   haploinsufficiency one whole gene deletion
    Remark(s)